Canonical Allele Identifier: CA367669792

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242123T>C (hg19) ; chr7:g.70777137T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777137T>C , CM000669.2:g.70777137T>C	GRCh38
NC_000007.13:g.70242123T>C , CM000669.1:g.70242123T>C	GRCh37
NC_000007.12:g.69880059T>C	NCBI36
NG_034133.1:g.1183219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.35T>C	ENSP00000514784.1:p.Ile12Thr
ENST00000342771.10:c.1967T>C MANE Select	ENSP00000344087.4:p.Ile656Thr
ENST00000439256.2:c.65T>C	ENSP00000407058.2:p.Ile22Thr
ENST00000443672.2:c.302T>C	ENSP00000393548.2:p.Ile101Thr
ENST00000449547.6:c.60T>C
ENST00000464768.2:n.635T>C
ENST00000644359.1:c.548T>C	ENSP00000494561.1:p.Ile183Thr
ENST00000644506.1:c.593T>C	ENSP00000496672.1:p.Ile198Thr
ENST00000644939.1:c.1964T>C	ENSP00000496726.1:p.Ile655Thr
ENST00000646136.1:n.278T>C
ENST00000647140.1:c.832T>C
ENST00000342771.8:c.1967T>C	ENSP00000344087.4:p.Ile656Thr
ENST00000406775.6:c.1895T>C	ENSP00000385263.2:p.Ile632Thr
ENST00000439256.1:c.65T>C
ENST00000464768.1:n.633T>C
ENST00000465899.1:n.464T>C
ENST00000498384.5:n.335T>C
ENST00000611706.4:c.1223T>C	ENSP00000478134.1:p.Ile408Thr
ENST00000615871.4:c.1151T>C	ENSP00000479325.1:p.Ile384Thr
NM_001127231.2:c.1895T>C	NP_001120703.1:p.Ile632Thr
NM_015570.3:c.1967T>C	NP_056385.1:p.Ile656Thr
XM_005250257.1:c.614T>C	XP_005250314.1:p.Ile205Thr
XM_011516010.1:c.1988T>C	XP_011514312.1:p.Ile663Thr
XM_011516011.1:c.1985T>C	XP_011514313.1:p.Ile662Thr
XM_011516012.1:c.1922T>C	XP_011514314.1:p.Ile641Thr
XM_011516013.1:c.1916T>C	XP_011514315.1:p.Ile639Thr
XM_011516014.1:c.1886T>C	XP_011514316.1:p.Ile629Thr
XM_011516015.1:c.1724T>C	XP_011514317.1:p.Ile575Thr
XM_011516016.1:c.1697T>C	XP_011514318.1:p.Ile566Thr
XM_011516017.1:c.1514T>C	XP_011514319.1:p.Ile505Thr
XM_011516018.1:c.1487T>C	XP_011514320.1:p.Ile496Thr
XM_005250257.2:c.614T>C	XP_005250314.1:p.Ile205Thr
XM_011516010.2:c.1988T>C	XP_011514312.1:p.Ile663Thr
XM_011516011.2:c.1985T>C	XP_011514313.1:p.Ile662Thr
XM_011516012.2:c.1922T>C	XP_011514314.1:p.Ile641Thr
XM_011516013.2:c.1916T>C	XP_011514315.1:p.Ile639Thr
XM_011516014.2:c.1886T>C	XP_011514316.1:p.Ile629Thr
XM_011516017.2:c.1514T>C	XP_011514319.1:p.Ile505Thr
XM_011516018.2:c.1487T>C	XP_011514320.1:p.Ile496Thr
XM_017011951.2:c.1988T>C	XP_016867440.1:p.Ile663Thr
NM_001127231.3:c.1895T>C	NP_001120703.1:p.Ile632Thr
NM_015570.4:c.1967T>C MANE Select	NP_056385.1:p.Ile656Thr